List of variants reported as pathogenic by Neurogenetics Laboratory, Royal Perth Hospital

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000257.3(MYH7):c.4522_4524del	rs397516220
NM_000257.4(MYH7):c.4442T>C (p.Leu1481Pro)	rs587779414
NM_000257.4(MYH7):c.4622A>C (p.Gln1541Pro)	rs587779389
NM_000257.4(MYH7):c.4795A>C (p.Thr1599Pro)	rs587779390
NM_000257.4(MYH7):c.4823G>C (p.Arg1608Pro)	rs587779391
NM_000257.4(MYH7):c.4835T>C (p.Leu1612Pro)	rs587779392
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del)	rs121913648
NM_000257.4(MYH7):c.4906G>C (p.Ala1636Pro)	rs587779415
NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro)	rs587779393
NM_000257.4(MYH7):c.4985G>C (p.Arg1662Pro)	rs370328209
NM_000257.4(MYH7):c.5005_5007del (p.Glu1669del)	rs587779394
NM_000257.4(MYH7):c.5177AGA[5] (p.Lys1729dup)	rs367543052
NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del)	rs587779396
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)	rs397516248
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)	rs397516254

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